| Primary Identifier | MGI:2145597 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 105559 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable RNA binding activity and sequence-specific double-stranded DNA binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and retina. Used to study myotonic disease. Orthologous to human MBNL2 (muscleblind like splicing regulator 2). PHENOTYPE: Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
